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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel … See abstract for full author list ➔ van Rheenen W, et al. Among authors: gromicho m. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Phosphoneurofilament heavy chain and vascular endothelial growth factor as cerebrospinal fluid biomarkers for ALS.
Gonçalves M, De Carvalho M, Peixoto C, Alves P, Barreto C, Oliva A, Pinto S, Laborinho-Pronto A, Gromicho M, Costa J. Gonçalves M, et al. Among authors: gromicho m. Amyotroph Lateral Scler Frontotemporal Degener. 2017 Feb;18(1-2):134-136. doi: 10.1080/21678421.2016.1212894. Epub 2016 Aug 11. Amyotroph Lateral Scler Frontotemporal Degener. 2017. PMID: 27538346 No abstract available.
Sialorrhoea and reversals in ALS functional rating scale.
Pinto S, Gromicho M, de Carvalho M. Pinto S, et al. Among authors: gromicho m. J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):187-188. doi: 10.1136/jnnp-2016-313614. Epub 2016 Sep 15. J Neurol Neurosurg Psychiatry. 2017. PMID: 27634984 No abstract available.
Young-onset rapidly progressive ALS associated with heterozygous FUS mutation.
Gromicho M, Oliveira Santos M, Pinto A, Pronto-Laborinho A, De Carvalho M. Gromicho M, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2017 Aug;18(5-6):451-453. doi: 10.1080/21678421.2017.1299762. Epub 2017 Mar 13. Amyotroph Lateral Scler Frontotemporal Degener. 2017. PMID: 28288521
International Survey of ALS Experts about Critical Questions for Assessing Patients with ALS.
De Carvalho M, Ryczkowski A, Andersen P, Gromicho M, Grosskreutz J, Kuźma-Kozakiewicz M, Petri S, Piotrkiewicz M, Miltenberger Miltenyi G. De Carvalho M, et al. Among authors: gromicho m. Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov;18(7-8):505-510. doi: 10.1080/21678421.2017.1349150. Epub 2017 Jul 13. Amyotroph Lateral Scler Frontotemporal Degener. 2017. PMID: 28705085
Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model.
Westeneng HJ, Debray TPA, Visser AE, van Eijk RPA, Rooney JPK, Calvo A, Martin S, McDermott CJ, Thompson AG, Pinto S, Kobeleva X, Rosenbohm A, Stubendorff B, Sommer H, Middelkoop BM, Dekker AM, van Vugt JJFA, van Rheenen W, Vajda A, Heverin M, Kazoka M, Hollinger H, Gromicho M, Körner S, Ringer TM, Rödiger A, Gunkel A, Shaw CE, Bredenoord AL, van Es MA, Corcia P, Couratier P, Weber M, Grosskreutz J, Ludolph AC, Petri S, de Carvalho M, Van Damme P, Talbot K, Turner MR, Shaw PJ, Al-Chalabi A, Chiò A, Hardiman O, Moons KGM, Veldink JH, van den Berg LH. Westeneng HJ, et al. Among authors: gromicho m. Lancet Neurol. 2018 May;17(5):423-433. doi: 10.1016/S1474-4422(18)30089-9. Epub 2018 Mar 26. Lancet Neurol. 2018. PMID: 29598923 Free article.
C9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis.
Miltenberger-Miltenyi G, Conceição VA, Gromicho M, Pronto-Laborinho AC, Pinto S, Andersen PM, de Carvalho M. Miltenberger-Miltenyi G, et al. Among authors: gromicho m. J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):118-120. doi: 10.1136/jnnp-2018-318032. Epub 2018 Apr 16. J Neurol Neurosurg Psychiatry. 2019. PMID: 29661924 No abstract available.
82 results